Hereditary Multiple Exostoses Support Group

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Listing of publications by Mr. Daniel Porter

1. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary
multiple exostoses. Philippe C., Porter D.E., Emerton M.E., Wells D.E.,
Simpson A.H.R.W., Monaco A.P. Am. J. Hum. Genet. 61 520-528 (1997)


2. Germline mutations in the EXT1 and EXT2 genes in Korean patients with
hereditary multiple exostoses. Park K.Y., Shin K.-H., Ku J.-L., Cho T.-J., Lee
S.H., Choi I.H., Phillippe C., Monaco A.M., Porter D.E., Park J.-G. J. Hum.
Genet. 44 230-234 (1999)


3. The neoplastic pathogenesis of solitary and Multiple Osteochondromas.
Porter D.E., Simpson A.H.R.W. J. Pathol. 188 119-125 (1999)
- and authors’ reply : J.Pathol. 190 517 (2000)


4. A clinical and radiographic analysis of osteochondromas and growth
disturbance in Hereditary Multiple Exostoses. Porter D.E., Emerton M.E.,
Villaneuva-Lopez F., Simpson A.H.R.W. J. Pediatr. Orth. 20 246-250 (2000)


5. Comparison of fluorescent single-strand conformation polymorphism
analysis and denaturing high-performance liquid chromatography for
detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
Dobson-Stone C., Lonie L., Cox R., Fraser M., Porter D.E., Simpson
A.H.R.W., Monaco A.M. Eur. J. Hum. Genet. 8 24-32 (2000)


6. Hereditary Multiple Exostoses : a qualitative study exploring families’ and
patients perceptions of disease impact and self-expressed needs. Fraser
M., Porter D.E. J. Orthop. Nursing 4 103-111 (2000)


7. The Hip in Hereditary Multiple Exostoses. Porter D.E., Benson M.K.D.,
Hosny G.A. J. Bone Joint Surg. [Br]. 83-B 988-995 (2001)


8. Disease severity and sarcoma risk in Hereditary Multiple Exostoses: A
genotype-phenotype study. Porter D.E., Lonie L., Fraser M., Dobson Stone C.,
Porter J.R., Monaco A.M., Simpson A.H.R.W. J. Bone Joint Surg. [Br]. 86-B 1041-1046 (2004)


9. Determination of the mutation spectrum of the EXT1/EXT2 genes in British
Caucasian patients with multiple osteochondromas, and exclusion of six
candidate genes in EXT negative cases. Lorne Lonie, Daniel E. Porter, Maria
Fraser, Trevor Cole, Carol Wise, Laura Yates, Emma Wakeling, Ed Blair, Eva
Morava, Anthony P. Monaco, Jiannis Ragoussis. Hum Mut 27 1160 (mutations
in brief No 938) (2006)


10. The Association between ulnar length and forearm movement in patients with multiple osteochondromas.
Adam C Watts, J Andrew Ballantyne, M Fraser, A Hamish RW Simpson, Daniel E Porter. J Hand Surg [Am] 32-A 667-673 (2007)